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Whole-exome sequencing identification of a recurrent CRYBB2 variant in a four-generation Chinese family with congenital nuclear cataracts
Congenital cataracts is the most common cause of visual impairment and blindness in children. Although there have been extensive studies into the pathogenesis of congenital cataracts, the pathogenic mechanism underlying the recurrent variant CRYBB2:c.62T>A(p.I21N) has not been previously reported...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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D.A. Spandidos
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8506933/ https://www.ncbi.nlm.nih.gov/pubmed/34650623 http://dx.doi.org/10.3892/etm.2021.10810 |